Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut WBP7 0 broad.mit.edu 37 19 36219029 36219029 + Missense_Mutation SNP G G A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr19:36219029G>A ENST00000420124.1 + 19 4528 c.4528G>A c.(4528-4530)Gcc>Acc p.A1510T KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.A1510T CTGGTTCGACGCCCACGACCC 0.627000 7 10 0 0 0.004482 0 0 CEP152 22995 broad.mit.edu 37 15 49052457 49052457 + Missense_Mutation SNP T T C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr15:49052457T>C ENST00000380950.2 - 19 2756 c.2569A>G c.(2569-2571)Ata>Gta p.I857V CEP152_ENST00000325747.5_Missense_Mutation_p.I764V|CEP152_ENST00000399334.3_Missense_Mutation_p.I857V NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 857 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TGCACAGCTATTTCTACCTGT 0.378000 35 60 0 0 0.007835 0 0 THEMIS 387357 broad.mit.edu 37 6 128135044 128135044 + Missense_Mutation SNP G G T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr6:128135044G>T ENST00000368250.1 - 5 1003 c.505C>A c.(505-507)Cta>Ata p.L169I THEMIS_ENST00000537166.1_Missense_Mutation_p.L213I|THEMIS_ENST00000368248.2_Missense_Mutation_p.L248I|THEMIS_ENST00000543064.1_Missense_Mutation_p.L248I Q8N1K5 THMS1_HUMAN thymocyte selection associated 248 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCGACATCTAGACTGGGGAGG 0.343000 42 48 1.15183e-24 2.0349e-24 0.002222 1 0 GSTM3 2947 broad.mit.edu 37 1 110280288 110280288 + Missense_Mutation SNP G G A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr1:110280288G>A ENST00000540225.1 - 7 768 c.458C>T c.(457-459)gCc>gTc p.A153V GSTM3_ENST00000256594.3_Missense_Mutation_p.A153V|GSTM3_ENST00000361066.2_Missense_Mutation_p.A153V|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 153 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CTTTTCCCCGGCAAACCATGA 0.433000 5 255 0 0 0.000602 0 0 REV3L 5980 broad.mit.edu 37 6 111652902 111652902 + Missense_Mutation SNP G G A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr6:111652902G>A ENST00000435970.1 - 26 8593 c.7777C>T c.(7777-7779)Ccc>Tcc p.P2593S REV3L_ENST00000368802.3_Missense_Mutation_p.P2671S|REV3L_ENST00000368805.1_Missense_Mutation_p.P2671S|REV3L_ENST00000358835.3_Missense_Mutation_p.P2671S O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2671 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ACTCCATTGGGGGACACTGTG 0.373000 DNA polymerases (catalytic subunits) 7 129 0 0 0.004482 0 0 LNX1 84708 broad.mit.edu 37 4 54440038 54440038 + Missense_Mutation SNP G G C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr4:54440038G>C ENST00000263925.7 - 2 446 c.132C>G c.(130-132)tgC>tgG p.C44W FIP1L1_ENST00000507166.1_Intron NM_001126328.2 NP_001119800.1 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 44 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAGCCTGCAGGCAGATGTGGC 0.567000 5 30 0 0 0.001168 0 0 KIAA1549 57670 broad.mit.edu 37 7 138597183 138597183 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr7:138597183C>T ENST00000440172.1 - 3 2950 c.2902G>A c.(2902-2904)Gag>Aag p.E968K KIAA1549_ENST00000242365.4_Missense_Mutation_p.E918K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E968K NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 968 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 ATGATGTACTCCTGCACAGCT 0.468000 O BRAF pilocytic astrocytoma 22 43 0 0 0.002780 0 0 TBCK 93627 broad.mit.edu 37 4 107216253 107216253 + Silent SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr4:107216253C>T ENST00000273980.4 - 4 711 c.264G>A c.(262-264)gtG>gtA p.V88V TBCK_ENST00000432496.2_Silent_p.V88V|TBCK_ENST00000394706.3_Silent_p.V88V|TBCK_ENST00000394708.2_Silent_p.V88V|TBCK_ENST00000361687.4_Silent_p.V88V Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 88 Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TACAGTACCTCACAGGTTTCC 0.383000 42 71 0 0 0.003610 0 0 COL9A2 1298 broad.mit.edu 37 1 40767021 40767021 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr1:40767021C>T ENST00000372748.3 - 32 1999 c.1903G>A c.(1903-1905)Ggc>Agc p.G635S NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 635 Triple-helical region 1 (COL1). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCATCCTTGCCGTTGATTGCC 0.637000 7 27 0 0 0.004482 0 0 LRP4 4038 broad.mit.edu 37 11 46920980 46920980 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr11:46920980C>T ENST00000378623.1 - 5 747 c.505G>A c.(505-507)Ggt>Agt p.G169S NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 169 LDL-receptor class A 4. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCGGTGTCACCGTCGCAGTAC 0.582000 5 166 0 0 0.001168 0 0 PTPRD 5789 broad.mit.edu 37 9 8501033 8501033 + Missense_Mutation SNP T T C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr9:8501033T>C ENST00000381196.4 - 21 2392 c.1849A>G c.(1849-1851)Agt>Ggt p.S617G PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S617G|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S617G|PTPRD_ENST00000360074.4_Missense_Mutation_p.S604G|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S604G NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 617 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTGGTGCAACTAATGTCTTGA 0.403000 TSP Lung(15;0.13) 3 56 0 0 0.004672 0 0 CLRN3 119467 broad.mit.edu 37 10 129676574 129676574 + Missense_Mutation SNP T T A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr10:129676574T>A ENST00000368671.3 - 3 682 c.520A>T c.(520-522)Acc>Tcc p.T174S NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 174 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) TAACTGTGGGTCGTTCCTTTA 0.453000 61 96 0 0 0.003610 0 0 CLRN3 119467 broad.mit.edu 37 10 129676575 129676575 + Silent SNP C C A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr10:129676575C>A ENST00000368671.3 - 3 681 c.519G>T c.(517-519)acG>acT p.T173T NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 173 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) AACTGTGGGTCGTTCCTTTAC 0.453000 60 96 4.67498e-28 8.54393e-28 0.003610 1 0 WDR59 79726 broad.mit.edu 37 16 74919593 74919593 + Missense_Mutation SNP A A C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr16:74919593A>C ENST00000262144.6 - 25 2777 c.2647T>G c.(2647-2649)Ttg>Gtg p.L883V NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 883 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 ACAAACTTCAACACTTCAGCT 0.458000 27 60 0 0 0.007291 0 0 COL27A1 85301 broad.mit.edu 37 9 117052336 117052336 + Splice_Site SNP A A G TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr9:117052336A>G ENST00000356083.3 + 46 4597 c.e46-1 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 cell adhesion extracellular matrix structural constituent p.?(2) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TTGATTTTTCAGGGACCAAAG 0.627000 3 67 0 0 0.000248 0 0 EPCAM 4072 broad.mit.edu 37 2 47596655 47596655 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr2:47596655C>T ENST00000263735.4 + 1 369 c.11C>T c.(10-12)cCg>cTg p.P4L EPCAM_ENST00000405271.1_Intron NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 4 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 ATGGCGCCCCCGCAGGTCCTC 0.741000 2 1 0 0 0.004672 0 0 MCOLN1 57192 broad.mit.edu 37 19 7593787 7593787 + Nonsense_Mutation SNP C C A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr19:7593787C>A ENST00000264079.6 + 9 1190 c.1065C>A c.(1063-1065)taC>taA p.Y355* NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 355 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ATGGCTGGTACATCCTGCTCG 0.622000 7 55 6.5536e-12 1.08544e-11 0.003080 1 0 DNAH9 1770 broad.mit.edu 37 17 11607602 11607602 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr17:11607602C>T ENST00000262442.3 + 25 5302 c.5234C>T c.(5233-5235)gCc>gTc p.A1745V DNAH9_ENST00000454412.2_Missense_Mutation_p.A1745V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1745 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A1745V(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TATGAGAGTGCCATGAAGGAC 0.522000 7 105 0 0 0.001984 0 0 SPON2 10417 broad.mit.edu 37 4 1165191 1165191 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr4:1165191C>T ENST00000290902.5 - 3 636 c.304G>A c.(304-306)Gag>Aag p.E102K SPON2_ENST00000431380.1_Missense_Mutation_p.E102K NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 102 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GCCCAGGCCTCGCCGCGCTCC 0.701000 16 74 0 0 0.004990 0 0 ALG3 10195 broad.mit.edu 37 3 183963511 183963511 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr3:183963511C>T ENST00000455059.1 - 2 620 c.166G>A c.(166-168)Gga>Aga p.G56R EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.G48R|ALG3_ENST00000397676.3_Missense_Mutation_p.G96R Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 96 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAAGTGGTCCGGTGTCACCC 0.522000 19 24 0 0 0.001523 0 0 MPDZ 8777 broad.mit.edu 37 9 13138104 13138104 + Missense_Mutation SNP A A G TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr9:13138104A>G ENST00000319217.7 - 29 4299 c.4052T>C c.(4051-4053)aTt>aCt p.I1351T MPDZ_ENST00000536827.1_Missense_Mutation_p.I1318T|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1351T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1365T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1351T|MPDZ_ENST00000538841.1_Missense_Mutation_p.I210T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1351T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1318T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1351 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTCCAGTTCAATCATATGCAG 0.403000 13 16 0 0 0.004007 0 0 CCNT1 904 broad.mit.edu 37 12 49087252 49087252 + Missense_Mutation SNP C C A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr12:49087252C>A ENST00000261900.3 - 9 1967 c.1745G>T c.(1744-1746)gGg>gTg p.G582V NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 582 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AAACACAGCCCCTCCAGTCTC 0.458000 41 46 1.07121e-22 1.83142e-22 0.006999 1 0 F2RL2 2151 broad.mit.edu 37 5 75914398 75914398 + Missense_Mutation SNP G G T rs140813985 TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr5:75914398G>T ENST00000296641.4 - 2 337 c.134C>A c.(133-135)cCa>cAa p.P45Q F2RL2_ENST00000504899.1_Missense_Mutation_p.P23Q|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 45 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AAAAGAATTTGGGGGAGCTCC 0.413000 4 139 0.000602214 0.000967193 0.000602 1 0 FGD4 121512 broad.mit.edu 37 12 32793220 32793220 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr12:32793220C>T ENST00000427716.2 + 17 2478 c.2054C>T c.(2053-2055)gCc>gTc p.A685V FGD4_ENST00000546442.1_Missense_Mutation_p.A592V|FGD4_ENST00000534526.2_Missense_Mutation_p.A822V|FGD4_ENST00000531134.1_Missense_Mutation_p.A770V|FGD4_ENST00000525053.1_Missense_Mutation_p.A797V NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 685 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GACGTCAGAGCCCAGGCCACC 0.493000 60 111 0 0 0.003610 0 0 TNN 63923 broad.mit.edu 37 1 175048656 175048656 + Frame_Shift_Del DEL C C - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr1:175048656delC ENST00000239462.4 + 3 710 c.597delC c.(595-597)tafs p.Y199fs NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 199 EGF-like 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACTGCGGCTACCCGGCCTGCC 0.716 2 4 --- --- --- --- PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 3 4 --- --- --- --- COL4A2 1284 broad.mit.edu 37 13 111160356 111160356 + Frame_Shift_Del DEL T T - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr13:111160356delT ENST00000360467.5 + 47 4975 c.4669delT c.(4669-4671)atfs p.Y1557fs COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1557 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGTCTGCTACTATGCCAGCCG 0.622 57 103 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 2 4 --- --- --- ---